Incidental Mutation 'R3023:Arl5a'
| ID |
265742 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arl5a
|
| Ensembl Gene |
ENSMUSG00000036093 |
| Gene Name |
ADP-ribosylation factor-like 5A |
| Synonyms |
2810410P22Rik, Arl5, 2410015N24Rik |
| MMRRC Submission |
040539-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
R3023 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
52287961-52314886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52306209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 41
(V41A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041756
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036541]
|
| AlphaFold |
Q80ZU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036541
AA Change: V41A
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000041756
Gene: ENSMUSG00000036093
AA Change: V41A
| Domain | Start | End | E-Value | Type |
|---|
|
ARF
|
1 |
179 |
3.11e-66 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130357
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ARF family of GTP-binding proteins. With its distinctive nuclear/nucleolar localization and interaction with HP1alpha, the protein is developmentally regulated and may play a role(s) in nuclear dynamics and/or signaling cascades during embryonic development. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,646,531 (GRCm39) |
E1060D |
probably benign |
Het |
| Abca15 |
A |
T |
7: 119,982,002 (GRCm39) |
I1106F |
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,311,957 (GRCm39) |
D190G |
possibly damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,842,593 (GRCm39) |
|
probably null |
Het |
| Ckap2 |
T |
C |
8: 22,665,877 (GRCm39) |
N390S |
possibly damaging |
Het |
| Dtx3l |
A |
G |
16: 35,752,806 (GRCm39) |
I600T |
probably benign |
Het |
| Epb41l1 |
A |
C |
2: 156,356,129 (GRCm39) |
E555A |
probably damaging |
Het |
| Fxr1 |
G |
A |
3: 34,118,373 (GRCm39) |
R503H |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,833,147 (GRCm39) |
N436D |
probably benign |
Het |
| Kif26b |
G |
A |
1: 178,692,433 (GRCm39) |
C11Y |
probably damaging |
Het |
| Or4a78 |
A |
G |
2: 89,497,990 (GRCm39) |
I80T |
possibly damaging |
Het |
| Osbpl6 |
A |
T |
2: 76,417,077 (GRCm39) |
I703F |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,587,351 (GRCm39) |
Y37C |
probably damaging |
Het |
| Plekhm3 |
CCTGCTGCTGCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGCTGCTGCTGC |
1: 64,976,940 (GRCm39) |
|
probably benign |
Het |
| Pwwp2b |
G |
A |
7: 138,836,110 (GRCm39) |
R517H |
probably damaging |
Het |
| Rp1 |
G |
A |
1: 4,422,898 (GRCm39) |
R61W |
probably damaging |
Het |
| Sdk1 |
C |
G |
5: 142,031,991 (GRCm39) |
T1022S |
probably benign |
Het |
| Slc12a7 |
T |
A |
13: 73,948,541 (GRCm39) |
S669T |
probably benign |
Het |
| Sstr3 |
G |
A |
15: 78,424,187 (GRCm39) |
R187W |
probably damaging |
Het |
| Tlr2 |
C |
T |
3: 83,745,178 (GRCm39) |
V302I |
probably benign |
Het |
| Trav7-6 |
A |
G |
14: 53,954,701 (GRCm39) |
K77R |
probably benign |
Het |
| Vmn2r18 |
T |
C |
5: 151,485,148 (GRCm39) |
N782S |
probably benign |
Het |
| Vmn2r78 |
G |
T |
7: 86,604,174 (GRCm39) |
S784I |
probably damaging |
Het |
|
| Other mutations in Arl5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Arl5a
|
APN |
2 |
52,306,083 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01695:Arl5a
|
APN |
2 |
52,302,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0365:Arl5a
|
UTSW |
2 |
52,306,141 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0594:Arl5a
|
UTSW |
2 |
52,295,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1650:Arl5a
|
UTSW |
2 |
52,302,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1682:Arl5a
|
UTSW |
2 |
52,306,214 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2047:Arl5a
|
UTSW |
2 |
52,302,072 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5858:Arl5a
|
UTSW |
2 |
52,302,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7513:Arl5a
|
UTSW |
2 |
52,302,157 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7690:Arl5a
|
UTSW |
2 |
52,302,077 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7709:Arl5a
|
UTSW |
2 |
52,295,068 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8490:Arl5a
|
UTSW |
2 |
52,314,614 (GRCm39) |
missense |
probably benign |
0.43 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCTCATGCAAGCACTAGC -3'
(R):5'- TACCAGGCATGCTCATTGTTTTG -3'
Sequencing Primer
(F):5'- GCTCATGCAAGCACTAGCATTAGG -3'
(R):5'- AGGTATCTGTTTATACACTTTGCCTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation